Revel Score:
ENST00000263642
0.188
ENST00000543192
0.188
ENST00000421365
0.188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162318034C>T , CM000664.2:g.162318034C>T | GRCh38 |
| NC_000002.11:g.163174544C>T , CM000664.1:g.163174544C>T | GRCh37 |
| NC_000002.10:g.162882790C>T | NCBI36 |
| NG_011495.1:g.5496G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.274G>A | ENSP00000513228.1:p.Ala92Thr | |
| ENST00000648433.1:c.274G>A | ENSP00000496816.1:p.Ala92Thr | |
| ENST00000649979.2:c.274G>A MANE Select | ENSP00000497271.1:p.Ala92Thr | |
| ENST00000679938.1:c.109G>A | ENSP00000505518.1:p.Ala37Thr | |
| ENST00000263642.2:c.274G>A | ENSP00000263642.2:p.Ala92Thr | |
| ENST00000421365.2:c.274G>A | ENSP00000408450.2:p.Ala92Thr | |
| NM_022168.3:c.274G>A | NP_071451.2:p.Ala92Thr | |
| XM_011511629.1:c.274G>A | XP_011509931.1:p.Ala92Thr | |
| NM_022168.4:c.274G>A MANE Select | NP_071451.2:p.Ala92Thr |